ClinVar Miner

Submissions for variant NC_012920.1(MT-TS2):m.12207G>A

dbSNP: rs118203889
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247285 SCV002517730 pathogenic MELAS syndrome 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000010173 SCV000030394 pathogenic MERRF/MELAS overlap syndrome 2006-09-01 no assertion criteria provided literature only
GeneReviews RCV002247285 SCV004042622 not provided MELAS syndrome no assertion provided literature only

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